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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-112580598-ATT-GTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=112580598&ref=ATT&alt=GTC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC35A5",
"hgnc_id": 20792,
"hgvs_c": "c.481_483delATTinsGTC",
"hgvs_p": "p.Ile161Val",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_017945.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GTC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 424,
"aa_ref": "I",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4366,
"cdna_start": 729,
"cds_end": null,
"cds_length": 1275,
"cds_start": 481,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017945.5",
"gene_hgnc_id": 20792,
"gene_symbol": "SLC35A5",
"hgvs_c": "c.481_483delATTinsGTC",
"hgvs_p": "p.Ile161Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000492406.6",
"protein_coding": true,
"protein_id": "NP_060415.1",
"strand": true,
"transcript": "NM_017945.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 424,
"aa_ref": "I",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4366,
"cdna_start": 729,
"cds_end": null,
"cds_length": 1275,
"cds_start": 481,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000492406.6",
"gene_hgnc_id": 20792,
"gene_symbol": "SLC35A5",
"hgvs_c": "c.481_483delATTinsGTC",
"hgvs_p": "p.Ile161Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017945.5",
"protein_coding": true,
"protein_id": "ENSP00000417654.1",
"strand": true,
"transcript": "ENST00000492406.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 424,
"aa_ref": "I",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4280,
"cdna_start": 643,
"cds_end": null,
"cds_length": 1275,
"cds_start": 481,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001348905.2",
"gene_hgnc_id": 20792,
"gene_symbol": "SLC35A5",
"hgvs_c": "c.481_483delATTinsGTC",
"hgvs_p": "p.Ile161Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335834.1",
"strand": true,
"transcript": "NM_001348905.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 424,
"aa_ref": "I",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4292,
"cdna_start": 655,
"cds_end": null,
"cds_length": 1275,
"cds_start": 481,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001348906.2",
"gene_hgnc_id": 20792,
"gene_symbol": "SLC35A5",
"hgvs_c": "c.481_483delATTinsGTC",
"hgvs_p": "p.Ile161Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335835.1",
"strand": true,
"transcript": "NM_001348906.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 424,
"aa_ref": "I",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4332,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1275,
"cds_start": 481,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001348907.2",
"gene_hgnc_id": 20792,
"gene_symbol": "SLC35A5",
"hgvs_c": "c.481_483delATTinsGTC",
"hgvs_p": "p.Ile161Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335836.1",
"strand": true,
"transcript": "NM_001348907.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 424,
"aa_ref": "I",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3285,
"cdna_start": 718,
"cds_end": null,
"cds_length": 1275,
"cds_start": 481,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890627.1",
"gene_hgnc_id": 20792,
"gene_symbol": "SLC35A5",
"hgvs_c": "c.481_483delATTinsGTC",
"hgvs_p": "p.Ile161Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560686.1",
"strand": true,
"transcript": "ENST00000890627.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 424,
"aa_ref": "I",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4071,
"cdna_start": 1858,
"cds_end": null,
"cds_length": 1275,
"cds_start": 481,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890628.1",
"gene_hgnc_id": 20792,
"gene_symbol": "SLC35A5",
"hgvs_c": "c.481_483delATTinsGTC",
"hgvs_p": "p.Ile161Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560687.1",
"strand": true,
"transcript": "ENST00000890628.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 424,
"aa_ref": "I",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2956,
"cdna_start": 742,
"cds_end": null,
"cds_length": 1275,
"cds_start": 481,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890631.1",
"gene_hgnc_id": 20792,
"gene_symbol": "SLC35A5",
"hgvs_c": "c.481_483delATTinsGTC",
"hgvs_p": "p.Ile161Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560690.1",
"strand": true,
"transcript": "ENST00000890631.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 424,
"aa_ref": "I",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2761,
"cdna_start": 549,
"cds_end": null,
"cds_length": 1275,
"cds_start": 481,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890632.1",
"gene_hgnc_id": 20792,
"gene_symbol": "SLC35A5",
"hgvs_c": "c.481_483delATTinsGTC",
"hgvs_p": "p.Ile161Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560691.1",
"strand": true,
"transcript": "ENST00000890632.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 424,
"aa_ref": "I",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3340,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1275,
"cds_start": 481,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000890633.1",
"gene_hgnc_id": 20792,
"gene_symbol": "SLC35A5",
"hgvs_c": "c.481_483delATTinsGTC",
"hgvs_p": "p.Ile161Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560692.1",
"strand": true,
"transcript": "ENST00000890633.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2919,
"cdna_start": 706,
"cds_end": null,
"cds_length": 1275,
"cds_start": 481,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931385.1",
"gene_hgnc_id": 20792,
"gene_symbol": "SLC35A5",
"hgvs_c": "c.481_483delATTinsGTC",
"hgvs_p": "p.Ile161Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601444.1",
"strand": true,
"transcript": "ENST00000931385.1",
"transcript_support_level": null
},
{
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"aa_length": 424,
"aa_ref": "I",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3009,
"cdna_start": 797,
"cds_end": null,
"cds_length": 1275,
"cds_start": 481,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000931386.1",
"gene_hgnc_id": 20792,
"gene_symbol": "SLC35A5",
"hgvs_c": "c.481_483delATTinsGTC",
"hgvs_p": "p.Ile161Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601445.1",
"strand": true,
"transcript": "ENST00000931386.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_start": 600,
"cds_end": null,
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"cds_start": 481,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000931388.1",
"gene_hgnc_id": 20792,
"gene_symbol": "SLC35A5",
"hgvs_c": "c.481_483delATTinsGTC",
"hgvs_p": "p.Ile161Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601447.1",
"strand": true,
"transcript": "ENST00000931388.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 424,
"aa_ref": "I",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2784,
"cdna_start": 570,
"cds_end": null,
"cds_length": 1275,
"cds_start": 481,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931389.1",
"gene_hgnc_id": 20792,
"gene_symbol": "SLC35A5",
"hgvs_c": "c.481_483delATTinsGTC",
"hgvs_p": "p.Ile161Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601448.1",
"strand": true,
"transcript": "ENST00000931389.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 773,
"cds_end": null,
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"cds_start": 481,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000959802.1",
"gene_hgnc_id": 20792,
"gene_symbol": "SLC35A5",
"hgvs_c": "c.481_483delATTinsGTC",
"hgvs_p": "p.Ile161Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629861.1",
"strand": true,
"transcript": "ENST00000959802.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 391,
"aa_ref": "I",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2774,
"cdna_start": 562,
"cds_end": null,
"cds_length": 1176,
"cds_start": 382,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959803.1",
"gene_hgnc_id": 20792,
"gene_symbol": "SLC35A5",
"hgvs_c": "c.382_384delATTinsGTC",
"hgvs_p": "p.Ile128Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629862.1",
"strand": true,
"transcript": "ENST00000959803.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 306,
"aa_ref": "I",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4136,
"cdna_start": 499,
"cds_end": null,
"cds_length": 921,
"cds_start": 127,
"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001348908.2",
"gene_hgnc_id": 20792,
"gene_symbol": "SLC35A5",
"hgvs_c": "c.127_129delATTinsGTC",
"hgvs_p": "p.Ile43Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335837.1",
"strand": true,
"transcript": "NM_001348908.2",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4235,
"cdna_start": 598,
"cds_end": null,
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"cds_start": 118,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001348909.2",
"gene_hgnc_id": 20792,
"gene_symbol": "SLC35A5",
"hgvs_c": "c.118_120delATTinsGTC",
"hgvs_p": "p.Ile40Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335838.1",
"strand": true,
"transcript": "NM_001348909.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 235,
"aa_ref": "I",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3894,
"cdna_start": 729,
"cds_end": null,
"cds_length": 708,
"cds_start": 481,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001348910.2",
"gene_hgnc_id": 20792,
"gene_symbol": "SLC35A5",
"hgvs_c": "c.481_483delATTinsGTC",
"hgvs_p": "p.Ile161Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335839.1",
"strand": true,
"transcript": "NM_001348910.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 235,
"aa_ref": "I",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": 702,
"cds_end": null,
"cds_length": 708,
"cds_start": 481,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000261034.6",
"gene_hgnc_id": 20792,
"gene_symbol": "SLC35A5",
"hgvs_c": "c.481_483delATTinsGTC",
"hgvs_p": "p.Ile161Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261034.2",
"strand": true,
"transcript": "ENST00000261034.6",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 209,
"aa_ref": "I",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3746,
"cdna_start": 729,
"cds_end": null,
"cds_length": 630,
"cds_start": 481,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001348911.2",
"gene_hgnc_id": 20792,
"gene_symbol": "SLC35A5",
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